Abstract Search

hrp0092rfc1.4 | Diabetes and Insulin Session 1 | ESPE2019

Estimation of Mody Frequency and Prevalent Subtypes in Pediatric Patients by Targeted NGS

Salamanca Luis , Kadaoui Maria Al , Guerrero Julio , Carcavilla Atilano , Itza Nerea , Mora Cristina , Barreda Ana Coral , Dominguez Jesús , Vallespín Elena , Pozo Angela Del , Solis Mario , Aragonés Angel , Hermoso Florinda , Ramirez Joaquín , Teresa Muñoz Maria , Garzón Lucía , Rodriguez Amparo , Escribano Arantxa , Gonzalez Isabel , Campos Angel

Though up to fourteen different MODY subtypes have been so far described, there are no studies in the literature which have determined their actual frequency and prevalence in pediatric patients.Objectives: To identify the underlying molecular basis in a cohort of pediatric patients with a suspected clinical diagnosis of MODY by targeted NGS.Materials/Methods: Cohort of 60 patient fulfilling MODY c...

ePoster

hrp0097p1-584 | Thyroid | ESPE2023

National multi-center study of reevaluation of thyroid function in premature infants of less than 32 weeks of gestation and/or less than 1500g admitted to neonatal units

Campos-Martorell Ariadna , Ares Segura Susana , J Chueca Gandulain Maria , Grau Bolado Gema , Navarro Constanza , Serrano Costa Loreto , Gale Pola Ines , Fernandez Vallespin Laura , Pellicer Casanova Laura , Montaner Ramon Alicia , Puig Amoros Elisabet , Mora Sitja Marina , Rodriguez Amparo , Casano-Sancho Paula

Preterm and low birth weight(LBW) newborns are at risk of thyroid dysfunction during a critical period for neurodevelpment and this dysfunction can be missed in congenital hypothyroidism screening program(CHSP). Consequently, reassessment of thyroid function has been promoted in neonatal units, added to CHSP.Objectives: To evaluate prevalence and risk factors of thyroid dysfunction in≤32weeksGA and/or 1500g newborn, and compare differ...

ESPE Abstracts

Estimation of Mody Frequency and Prevalent Subtypes in Pediatric Patients by Targeted NGS

National multi-center study of reevaluation of thyroid function in premature infants of less than 32 weeks of gestation and/or less than 1500g admitted to neonatal units

BiosciAbstracts